OMIA:001505-9940 : Neuronal ceroid lipofuscinosis, 10 in Ovis aries (sheep) |
In other species: dog
Categories: Lysosomal storage disease , Nervous system phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 610127 (trait) , 116840 (gene)
Links to relevant human diseases in MONDO:
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2000
Cross-species summary: One of several variants of neuronal ceroid lipofuscinosis (NCL) or Batten disease: CLN10; NCL10
Species-specific name: Congenital ovine NCL
Species-specific symbol: CONCL
History: The first report of this disorder was by Jarplid and Haltia (1993).
Molecular basis: By cloning and sequencing a very likely candidate gene (based on "a striking deficiency of [lysosomal enzyme] cathepsin D activity in the CONCL brain and liver compared with controls"), Tyynelä et al. (2000) reported the causal mutation in Swedish Landrace as being "A single nucleotide mutation [G->A] in the cathepsin D gene [CTSD] results in conversion of an active site aspartate to asparagine, leading to production of an enzymatically inactive but stable protein." Note that NCBI Gene lists the CTSD gene in sheep as LOC443060.
Breed:
Roslagsfår, Sweden (Sheep) (VBO_0016519).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| CTSD | cathepsin D | Ovis aries | 21 | NC_056074.1 (46088585..46097887) | CTSD | Homologene, Ensembl , NCBI gene |
Variants
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
| OMIA Variant ID | Breed(s) | Variant Phenotype | Gene | Allele | Type of Variant | Source of Genetic Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 905 | Roslagsfår, Sweden (Sheep) | Neuronal ceroid lipofuscinosis, 10 | CTSD | missense | Naturally occurring variant | Oar_rambouillet_v1.0 | 21 | NC_040272.1:g.51583020G>A | XM_027959254.1:c.883G>A | XP_027815055.1:p.(D295N) | published as c.934G>A; protein and cDNA positions in this table based on XP_027815055.1 and XM_027959254.1, respectively | 2000 | 10856224 | The genomic location on Oar_rambouillet_v1.0 was determined by Katie Eager, EMAI, NSW Department of Primary Industries. |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2017). OMIA:001505-9940: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
| 2013 | Bond, M., Holthaus, S.M., Tammen, I., Tear, G., Russell, C. : |
| Use of model organisms for the study of neuronal ceroid lipofuscinosis. Biochim Biophys Acta 1832:1842-65, 2013. Pubmed reference: 23338040. DOI: 10.1016/j.bbadis.2013.01.009. | |
| 2000 | Tyynelä, J., Sohar, I., Sleat, D.E., Gin, R.M., Donnelly, R.J., Baumann, M., Haltia, M., Lobel, P. : |
| A mutation in the ovine cathepsin D gene causes a congenital lysosomal storage disease with profound neurodegeneration EMBO Journal 19:2786-2792, 2000. Pubmed reference: 10856224. DOI: 10.1093/emboj/19.12.2786. | |
| 1993 | Jarplid, B., Haltia, M. : |
| An Animal Model of the Infantile Type of Neuronal Ceroid- Lipofuscinosis J Inherit Metab Dis 16:274-7, 1993. Pubmed reference: 8411979. DOI: 10.1007/BF00710263. |
Edit History
- Created by Frank Nicholas on 09 Dec 2011
- Changed by Frank Nicholas on 18 Sep 2012
- Changed by Frank Nicholas on 20 Aug 2013
- Changed by Frank Nicholas on 12 Dec 2017